α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease

por Agüero, Pablo, Sainz, María José, García-Ayllón, María-Salud, Sáez-Valero, Javier, Téllez, Raquel, Guerrero-López, Rosa, Pérez-Pérez, Julián, Jiménez-Escrig, Adriano, Gómez-Tortosa, Estrella
Publicado 2020

ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels

por Agüero-Rabes, Pablo, Pérez-Pérez, Julián, Cremades-Jimeno, Lucía, García-Ayllón, María-Salud, Gea-González, Adriana, Sainz, María José, Mahillo-Fernández, Ignacio, Téllez, Raquel, Cárdaba, Blanca, Sáez-Valero, Javier, Gómez-Tortosa, Estrella
Publicado 2023

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

por Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta
Publicado 2022

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

por Ramos, Eliana Marisa, Latourelle, Jeanne C., Lee, Ji-Hyun, Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Publicado 2012

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

por Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Publicado 2013

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

por De Roeck, Arne, Van den Bossche, Tobi, van der Zee, Julie, Verheijen, Jan, De Coster, Wouter, Van Dongen, Jasper, Dillen, Lubina, Baradaran-Heravi, Yalda, Heeman, Bavo, Sanchez-Valle, Raquel, Lladó, Albert, Nacmias, Benedetta, Sorbi, Sandro, Gelpi, Ellen, Grau-Rivera, Oriol, Gómez-Tortosa, Estrella, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A., Graff, Caroline, Thonberg, Håkan, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Almeida, Maria Rosário, Santana, Isabel, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, Tsolaki, Magda, Koutroumani, Maria, Matěj, Radoslav, Rohan, Zdenek, De Deyn, Peter, Engelborghs, Sebastiaan, Cras, Patrick, Van Broeckhoven, Christine, Sleegers, Kristel
Publicado 2017

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

por Li, Jian-Liang, Hayden, Michael R, Warby, Simon C, Durr, Alexandra, Morrison, Patrick J, Nance, Martha, Ross, Christopher A, Margolis, Russell L, Rosenblatt, Adam, Squitieri, Ferdinando, Frati, Luigi, Gómez-Tortosa, Estrella, García, Carmen Ayuso, Suchowersky, Oksana, Klimek, Mary Lou, Trent, Ronald JA, McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Paulsen, Jane S, Jones, Randi, Ashizawa, Tetsuo, Lazzarini, Alice, Wheeler, Vanessa C, Prakash, Ranjana, Xu, Gang, Djoussé, Luc, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Hakky, Michael, Cupples, L Adrienne, Saint-Hilaire, Marie H, Cha, Jang-Ho J, Hersch, Steven M, Penney, John B, Harrison, Madaline B, Perlman, Susan L, Zanko, Andrea, Abramson, Ruth K, Lechich, Anthony J, Duckett, Ayana, Marder, Karen, Conneally, P Michael, Gusella, James F, MacDonald, Marcy E, Myers, Richard H
Publicado 2006

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

por van der Zee, Julie, Gijselinck, Ilse, Van Mossevelde, Sara, Perrone, Federica, Dillen, Lubina, Heeman, Bavo, Bäumer, Veerle, Engelborghs, Sebastiaan, De Bleecker, Jan, Baets, Jonathan, Gelpi, Ellen, Rojas‐García, Ricardo, Clarimón, Jordi, Lleó, Alberto, Diehl‐Schmid, Janine, Alexopoulos, Panagiotis, Perneczky, Robert, Synofzik, Matthis, Just, Jennifer, Schöls, Ludger, Graff, Caroline, Thonberg, Håkan, Borroni, Barbara, Padovani, Alessandro, Jordanova, Albena, Sarafov, Stayko, Tournev, Ivailo, de Mendonça, Alexandre, Miltenberger‐Miltényi, Gabriel, Simões do Couto, Frederico, Ramirez, Alfredo, Jessen, Frank, Heneka, Michael T., Gómez‐Tortosa, Estrella, Danek, Adrian, Cras, Patrick, Vandenberghe, Rik, De Jonghe, Peter, De Deyn, Peter P., Sleegers, Kristel, Cruts, Marc, Van Broeckhoven, Christine, Goeman, Johan, Nuytten, Dirk, Smets, Katrien, Robberecht, Wim, Damme, Philip Van, Bleecker, Jan De, Santens, Patrick, Dermaut, Bart, Versijpt, Jan, Michotte, Alex, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Delbeck, Jean, Bruyland, Marc, Willems, Christiana, Salmon, Eric, Pastor, Pau, Ortega‐Cubero, Sara, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Sanchez‐Valle, Raquel, Llado, Albert, Santana, Isabel, Rosário Almeida, Maria, Frisoni, Giovanni B, Maetzler, Walter, Matej, Radoslav, Fraidakis, Matthew J., Kovacs, Gabor G., Fabrizi, Gian Maria, Testi, Silvia
Publicado 2017